Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
The discovery of driver mutations is one of the key motivations for cancer genome sequencing. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancers across 38 tumour types, we describe DriverPower, a software package that uses mutational burden and functional impact evidence to identify driver mutations in coding and non-coding sites within cancer whole genomes. Using a total of 1373 genomic features derived from public sources, DriverPower's background mutation model explains up to 93% of the regional variance in the mutation rate across multiple tumour types. By incorporating functional impact scores, we are able to further increase the accuracy of driver discovery. Testing across a collection of 2583 cancer genomes from the PCAWG project, DriverPower identifies 217 coding and 95 non-coding driver candidates. Comparing to six published methods used by the PCAWG Drivers and Functional Interpretation Working Group, DriverPower has the highest F1 score for both coding and non-coding driver discovery. This demonstrates that DriverPower is an effective framework for computational driver discovery.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7002750 | PMC |
| http://dx.doi.org/10.1038/s41467-019-13929-1 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
RELA Ablation Contributes to Progression of Hepatocellular Carcinoma with TP53 Mutation and is a Potential Therapeutic Target.
Adv Sci (Weinh)
September 2025
China-New Zealand Joint Laboratory on Biomedicine and Health, State Key Laboratory of Immune Response and Immunotherapy, Guangdong Provincial Key Laboratory of Stem Cell and Regenerative Medicine, GIBH-HKU Guangdong-Hong Kong Stem Cell and Regenerative Medicine Research Centre, GIBH-CUHK Joint Resea
TP53 mutations are highly associated with hepatocellular carcinoma (HCC), a common and deadly cancer. However, few primary drivers in the progression of HCC with mutant TP53 have been identified. To uncover tumor suppressors in human HCC, a genome-wide CRISPR/Cas9-based screening of primary human hepatocytes with MYC and TP53 overexpression (MT-PHHs) is performed in xenografts.
View Article and Find Full Text PDFPlasma proteomic markers of pain and emotional dysfunction in fibrous dysplasia/McCune-Albright syndrome.
Bone
September 2025
Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Department of Psychiatry, McLean Hospital, Harvard Medical School, Belmont, MA, USA. Electronic address:
Pain in Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) remains poorly understood and inadequately managed due to uncertainties regarding clinical or biological drivers. This cross-sectional pilot study aimed to use plasma proteomics to identify markers that inform on molecular pathways associated with pain and emotional symptoms in FD/MAS. Seventeen individuals (15 females, 2 males), aged 16 to 63 years, with confirmed diagnoses of monostotic FD, polyostotic FD, or MAS participated in a single study visit conducted at Boston Children's Hospital and Massachusetts General Brigham.
View Article and Find Full Text PDFCancer Stem Cell Mechanisms and Targeted Therapeutic Strategies in Head and Neck Squamous Cell Carcinoma.
Cancer Lett
September 2025
Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21201, USA; Department of Otorhinolaryngology-Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, MD 21201, USA; Marlene and Stewart Greenbaum Cancer Center, University
Head and neck squamous cell carcinoma (HNSCC) originates in the epithelial lining of the oral cavity, pharynx, and larynx, with over 830,000 new cases diagnosed globally in 2020, making it the seventh most prevalent cancer. Despite treatment advances, high-grade HNSCCs remain associated with poor outcomes and a high risk of recurrence. Although Cancer Stem Cells (CSCs) are rare in HNSCC tumors, they are key drivers of tumor relapses, as they evade apoptosis and survive current therapies through enhanced DNA repair and quiescence.
View Article and Find Full Text PDFConfining thrombus morphospace through targeted inhibition of platelet mechanosensory signaling.
J Thromb Haemost
September 2025
Australian Centre for Blood Diseases, Monash University, Melbourne, Australia; Dept. of Hematology and Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden. Electronic address:
Background: While current antiplatelets protect against thrombosis, their clinical utility is limited by an elevated risk of bleeding.
Objectives: To understand how structure-function relations in the hemostatic system may be leveraged into improved risk/benefit ratios for antiplatelet therapies.
Methods: We developed a deep learning-based framework to track the activities of large numbers of platelets in vivo, enabling a detailed comparative assessment of the effects of therapeutic interventions on the evolving structural hierarchy of the hemostatic response.
CHIP ahoy: charting a decade of discovery in clonal hematopoiesis.
Haematologica
September 2025
Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, Canada; Department of Medicine, Queen's University, Kingston, ON.
Clonal hematopoiesis (CH) involves the expansion of hematopoietic stem cells with ageacquired mutations linked to myeloid malignancy. Advances in next-generation and single-cell sequencing, along with computational modeling, have expanded our ability to detect both common and rare CH drivers, including single-nucleotide variants and mosaic chromosomal alterations, with increasing sensitivity. While sequencing methods differ in accuracy, cost, and ability to detect low-frequency variants, they have deepened our understanding of CH biology.
View Article and Find Full Text PDF